Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Pulmonary surfactant-associated protein A2

Gene

SFTPA2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

In presence of calcium ions, it binds to surfactant phospholipids and contributes to lower the surface tension at the air-liquid interface in the alveoli of the mammalian lung and is essential for normal respiration.

Miscellaneous

Pulmonary surfactant consists of 90% lipid and 10% protein. There are 4 surfactant-associated proteins: 2 collagenous, carbohydrate-binding glycoproteins (SP-A and SP-D) and 2 small hydrophobic proteins (SP-B and SP-C).

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • lipopolysaccharide binding Source: GO_Central
  • monosaccharide binding Source: GO_Central

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processGaseous exchange
LigandCalcium, Lectin

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-166016 Toll Like Receptor 4 (TLR4) Cascade
R-HSA-168179 Toll Like Receptor TLR1:TLR2 Cascade
R-HSA-391160 Signal regulatory protein family interactions
R-HSA-5683826 Surfactant metabolism
R-HSA-5686938 Regulation of TLR by endogenous ligand
R-HSA-5687868 Defective SFTPA2 causes idiopathic pulmonary fibrosis (IPF)
R-HSA-5688849 Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5)
R-HSA-5688890 Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4)

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Pulmonary surfactant-associated protein A2
Short name:
PSP-A
Short name:
PSPA
Short name:
SP-A
Short name:
SP-A2
Alternative name(s):
35 kDa pulmonary surfactant-associated protein
Alveolar proteinosis protein
Collectin-5
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SFTPA2
Synonyms:COLEC5, PSAP, SFTP1, SFTPA, SFTPA2B
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 10

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000185303.15

Human Gene Nomenclature Database

More...
HGNCi
HGNC:10799 SFTPA2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
178642 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8IWL1

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Extracellular matrix, Secreted, Surface film

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Pulmonary fibrosis, idiopathic (IPF)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA lung disease characterized by shortness of breath, radiographically evident diffuse pulmonary infiltrates, and varying degrees of inflammation and fibrosis on biopsy. In some cases, the disorder can be rapidly progressive and characterized by sequential acute lung injury with subsequent scarring and end-stage lung disease.
See also OMIM:178500
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_063519198F → S in IPF; rare mutation; the mutant protein is retained in the endoplasmic reticulum and is not secreted. 1 Publication1
Natural variantiVAR_063520231G → V in IPF; rare mutation; the mutant protein is retained in the endoplasmic reticulum and is not secreted. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
729238

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
SFTPA2

MalaCards human disease database

More...
MalaCardsi
SFTPA2
MIMi178500 phenotype

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
2032 Idiopathic pulmonary fibrosis

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA35711

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SFTPA2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
60416439

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 20Add BLAST20
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000001745821 – 248Pulmonary surfactant-associated protein A2Add BLAST228

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi26Interchain1 Publication
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei304-hydroxyprolineBy similarity1
Modified residuei334-hydroxyprolineBy similarity1
Modified residuei364-hydroxyprolineBy similarity1
Modified residuei424-hydroxyprolineBy similarity1
Modified residuei544-hydroxyprolineBy similarity1
Modified residuei574-hydroxyprolineBy similarity1
Modified residuei634-hydroxyprolineBy similarity1
Modified residuei674-hydroxyprolineBy similarity1
Modified residuei704-hydroxyprolineBy similarity1
Disulfide bondi155 ↔ 246PROSITE-ProRule annotation1 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi207N-linked (GlcNAc...) asparagineCurated1
Disulfide bondi224 ↔ 238PROSITE-ProRule annotation1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

N-acetylated.1 Publication

Keywords - PTMi

Acetylation, Disulfide bond, Glycoprotein, Hydroxylation

Proteomic databases

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q8IWL1

PeptideAtlas

More...
PeptideAtlasi
Q8IWL1

PRoteomics IDEntifications database

More...
PRIDEi
Q8IWL1

ProteomicsDB human proteome resource

More...
ProteomicsDBi
70868

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8IWL1

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q8IWL1

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000185303 Expressed in 92 organ(s), highest expression level in upper lobe of lung

CleanEx database of gene expression profiles

More...
CleanExi
HS_PSAP
HS_SFTPA2B

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q8IWL1 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8IWL1 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB002439
HPA042638
HPA045752
HPA049368

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Oligomeric complex of 6 set of homotrimers.

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
609641, 12 interactors

Protein interaction database and analysis system

More...
IntActi
Q8IWL1, 1 interactor

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000361400

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q8IWL1

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q8IWL1

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini28 – 100Collagen-likeAdd BLAST73
Domaini132 – 248C-type lectinPROSITE-ProRule annotationAdd BLAST117

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the SFTPA family.Curated

Keywords - Domaini

Collagen, Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG4297 Eukaryota
ENOG410XPJ1 LUCA

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000085660

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG108270

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8IWL1

KEGG Orthology (KO)

More...
KOi
K10067

Database of Orthologous Groups

More...
OrthoDBi
EOG091G0PU5

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8IWL1

TreeFam database of animal gene trees

More...
TreeFami
TF330481

Family and domain databases

Conserved Domains Database

More...
CDDi
cd03591 CLECT_collectin_like, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
3.10.100.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR001304 C-type_lectin-like
IPR016186 C-type_lectin-like/link_sf
IPR018378 C-type_lectin_CS
IPR033990 Collectin_CTLD
IPR016187 CTDL_fold

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00059 Lectin_C, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00034 CLECT, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF56436 SSF56436, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00615 C_TYPE_LECTIN_1, 1 hit
PS50041 C_TYPE_LECTIN_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All

Q8IWL1-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MWLCPLALNL ILMAASGAAC EVKDVCVGSP GIPGTPGSHG LPGRDGRDGV
60 70 80 90 100
KGDPGPPGPM GPPGETPCPP GNNGLPGAPG VPGERGEKGE AGERGPPGLP
110 120 130 140 150
AHLDEELQAT LHDFRHQILQ TRGALSLQGS IMTVGEKVFS SNGQSITFDA
160 170 180 190 200
IQEACARAGG RIAVPRNPEE NEAIASFVKK YNTYAYVGLT EGPSPGDFRY
210 220 230 240
SDGTPVNYTN WYRGEPAGRG KEQCVEMYTD GQWNDRNCLY SRLTICEF
Length:248
Mass (Da):26,182
Last modified:March 1, 2003 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i3949613C32CA0078
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
R4GMN3R4GMN3_HUMAN
Pulmonary surfactant-associated pro...
SFTPA2
97Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
X6REF7X6REF7_HUMAN
Pulmonary surfactant-associated pro...
SFTPA2
158Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1W2PR89A0A1W2PR89_HUMAN
Pulmonary surfactant-associated pro...
SFTPA2
38Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti247E → D in AAA60319 (PubMed:1372511).Curated1

<p>This subsection of the ‘Sequence’ section provides information on polymorphic variants. If the variant is associated with a disease state, the description of the latter can be found in the <a href="http://www.uniprot.org/manual/involvement_in_disease">'Involvement in disease'</a> subsection.<p><a href='/help/polymorphism' target='_top'>More...</a></p>Polymorphismi

At least 6 alleles of SFTPA2 are known: 1A, 1A0, 1A1, 1A2, 1A3 and 1A4. The sequence shown is that of allele 1A0.

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0212939N → T in allele 1A, allele 1A(1), allele 1A(2) and allele 1A(4). 6 PublicationsCorresponds to variant dbSNP:rs1059046Ensembl.1
Natural variantiVAR_06351812L → W1 Publication1
Natural variantiVAR_02129450V → L2 PublicationsCorresponds to variant dbSNP:rs192907309EnsemblClinVar.1
Natural variantiVAR_02129591A → P in allele 1A. 3 PublicationsCorresponds to variant dbSNP:rs17886395EnsemblClinVar.1
Natural variantiVAR_063519198F → S in IPF; rare mutation; the mutant protein is retained in the endoplasmic reticulum and is not secreted. 1 Publication1
Natural variantiVAR_021296223Q → K in allele 1A(1), allele 1A(3) and allele 1A(4). 4 PublicationsCorresponds to variant dbSNP:rs1965708EnsemblClinVar.1
Natural variantiVAR_063520231G → V in IPF; rare mutation; the mutant protein is retained in the endoplasmic reticulum and is not secreted. 1 Publication1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
K03475 mRNA Translation: AAA36520.1
M68519 Genomic DNA Translation: AAA60319.1
HQ021421 mRNA Translation: ADO27664.1
HQ021422 mRNA Translation: ADO27665.1
HQ021423 mRNA Translation: ADO27666.1
HQ021424 mRNA Translation: ADO27667.1
HQ021427 mRNA Translation: ADO27670.1
HQ021428 mRNA Translation: ADO27671.1
HQ021429 mRNA Translation: ADO27672.1
HQ021430 mRNA Translation: ADO27673.1
AY206682 Genomic DNA Translation: AAO13490.1
BX248123 Genomic DNA No translation available.
BC111571 mRNA Translation: AAI11572.1
BC139727 mRNA Translation: AAI39728.1
BC157866 mRNA Translation: AAI57867.1
BC157890 mRNA Translation: AAI57891.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS41540.1

Protein sequence database of the Protein Information Resource

More...
PIRi
B25720 LNHUP1
I51921

NCBI Reference Sequences

More...
RefSeqi
NP_001092138.1, NM_001098668.3
NP_001307742.1, NM_001320813.1
XP_005270189.1, XM_005270132.3
XP_011538426.1, XM_011540124.1
XP_011538427.1, XM_011540125.1
XP_016872097.1, XM_017016608.1

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.523084

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000372325; ENSP00000361400; ENSG00000185303
ENST00000372327; ENSP00000361402; ENSG00000185303

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
729238

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:729238

UCSC genome browser

More...
UCSCi
uc001kal.5 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

SeattleSNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
K03475 mRNA Translation: AAA36520.1
M68519 Genomic DNA Translation: AAA60319.1
HQ021421 mRNA Translation: ADO27664.1
HQ021422 mRNA Translation: ADO27665.1
HQ021423 mRNA Translation: ADO27666.1
HQ021424 mRNA Translation: ADO27667.1
HQ021427 mRNA Translation: ADO27670.1
HQ021428 mRNA Translation: ADO27671.1
HQ021429 mRNA Translation: ADO27672.1
HQ021430 mRNA Translation: ADO27673.1
AY206682 Genomic DNA Translation: AAO13490.1
BX248123 Genomic DNA No translation available.
BC111571 mRNA Translation: AAI11572.1
BC139727 mRNA Translation: AAI39728.1
BC157866 mRNA Translation: AAI57867.1
BC157890 mRNA Translation: AAI57891.1
CCDSiCCDS41540.1
PIRiB25720 LNHUP1
I51921
RefSeqiNP_001092138.1, NM_001098668.3
NP_001307742.1, NM_001320813.1
XP_005270189.1, XM_005270132.3
XP_011538426.1, XM_011540124.1
XP_011538427.1, XM_011540125.1
XP_016872097.1, XM_017016608.1
UniGeneiHs.523084

3D structure databases

ProteinModelPortaliQ8IWL1
SMRiQ8IWL1
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi609641, 12 interactors
IntActiQ8IWL1, 1 interactor
STRINGi9606.ENSP00000361400

PTM databases

iPTMnetiQ8IWL1
PhosphoSitePlusiQ8IWL1

Polymorphism and mutation databases

BioMutaiSFTPA2
DMDMi60416439

Proteomic databases

PaxDbiQ8IWL1
PeptideAtlasiQ8IWL1
PRIDEiQ8IWL1
ProteomicsDBi70868

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000372325; ENSP00000361400; ENSG00000185303
ENST00000372327; ENSP00000361402; ENSG00000185303
GeneIDi729238
KEGGihsa:729238
UCSCiuc001kal.5 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
729238
DisGeNETi729238
EuPathDBiHostDB:ENSG00000185303.15

GeneCards: human genes, protein and diseases

More...
GeneCardsi
SFTPA2
GeneReviewsiSFTPA2

H-Invitational Database, human transcriptome db

More...
H-InvDBi
HIX0170313
HGNCiHGNC:10799 SFTPA2
HPAiCAB002439
HPA042638
HPA045752
HPA049368
MalaCardsiSFTPA2
MIMi178500 phenotype
178642 gene
neXtProtiNX_Q8IWL1
Orphaneti2032 Idiopathic pulmonary fibrosis
PharmGKBiPA35711

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG4297 Eukaryota
ENOG410XPJ1 LUCA
HOGENOMiHOG000085660
HOVERGENiHBG108270
InParanoidiQ8IWL1
KOiK10067
OrthoDBiEOG091G0PU5
PhylomeDBiQ8IWL1
TreeFamiTF330481

Enzyme and pathway databases

ReactomeiR-HSA-166016 Toll Like Receptor 4 (TLR4) Cascade
R-HSA-168179 Toll Like Receptor TLR1:TLR2 Cascade
R-HSA-391160 Signal regulatory protein family interactions
R-HSA-5683826 Surfactant metabolism
R-HSA-5686938 Regulation of TLR by endogenous ligand
R-HSA-5687868 Defective SFTPA2 causes idiopathic pulmonary fibrosis (IPF)
R-HSA-5688849 Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5)
R-HSA-5688890 Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4)

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
SFTPA2 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
SFTPA2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
729238

Protein Ontology

More...
PROi
PR:Q8IWL1

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000185303 Expressed in 92 organ(s), highest expression level in upper lobe of lung
CleanExiHS_PSAP
HS_SFTPA2B
ExpressionAtlasiQ8IWL1 baseline and differential
GenevisibleiQ8IWL1 HS

Family and domain databases

CDDicd03591 CLECT_collectin_like, 1 hit
Gene3Di3.10.100.10, 1 hit
InterProiView protein in InterPro
IPR001304 C-type_lectin-like
IPR016186 C-type_lectin-like/link_sf
IPR018378 C-type_lectin_CS
IPR033990 Collectin_CTLD
IPR016187 CTDL_fold
PfamiView protein in Pfam
PF00059 Lectin_C, 1 hit
SMARTiView protein in SMART
SM00034 CLECT, 1 hit
SUPFAMiSSF56436 SSF56436, 1 hit
PROSITEiView protein in PROSITE
PS00615 C_TYPE_LECTIN_1, 1 hit
PS50041 C_TYPE_LECTIN_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiSFPA2_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8IWL1
Secondary accession number(s): A4QPA7
, B2RXI6, B2RXK9, C9J9I7, E3VLC6, E3VLC7, E3VLC8, E3VLC9, P07714, Q14DV3, Q5RIR8, Q5RIR9
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 1, 1988
Last sequence update: March 1, 2003
Last modified: December 5, 2018
This is version 151 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again